genetic disorders🪂🦅 Flashcards
AUTOSOMAL RECC. MUTATION DISORDER- phenylketonuria alkaptonuria albinism tay sachs disease thalassemia
X-LINKED RECC. DISORDERS
G-6-phosphate dehydrogenase def. syndrome
duchenne muscular dystrophy
PKU-
inborn error of metabolism
accu. of these p.pyruvic acid and deriv. results in mental retardation
these are also extreted thru urine cuz of its poor absorption by kidney
phenylalanine—————[p.alanine hydroxylase]———————–tyrosine
p.alanine—–[liver]—–phenyl pyruvic acid
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[liver] [BBB]
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p.ketone brain
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[kidney] mental retard
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PKU
ALKAPTONURIA [BLACK URINE DISEASE]
deficiency of enzyme
conc. of homogentisic acid in urine, blood etc, when urine comes in contact of atmosphere
homogentisic acid oxidate
then homo. acid is oxidised into alkapton__which is black hence the name.
ALBINISM-
deficiency of
enzyme TYROSINASE
tyrosine—–TYROSINASE—— melanin
TAY-SACH’S DISEASE [infantile amaurotic idiocy ]
this is due to deficiency of
thus fat is accumulated in brain and spinal cord n damage the cells
thers no treatment
enzyme ⫸beta-N-ACETYL HEXOSAMINIDASE—-involved in fat metabolism
this causes mental retard. and paralysis of a normal born child
THALASSEMIA-
this could b either due to mutation or deletion which results in
thallemisia = is a quantitative problem of synthesizing too few globin mol.
s.c.anaemia = qualitative problem of synthesising an incorrectly functionally globin
-ce rate of synthesis of one of the glibin chains [alpha / beta] that make up HB
this causes forming of abnormal HB resulting in anaemia
G-6-phosphate dehydrogenase def. syndrome[FAVISM]
G-6-PD enzyme +nt on rbc
this enzyme stabilizes membr. of rbc
defi. of this enzyme causes rupture of rbc
when it comes in contact w/ sulfa drug, chlorinequine, fava bean.
duchenne muscular dystrophy
protein absent
this protein helps provide
muscle contraction does not happen properly
DYSTROPHIN
tensile strength to sarcolemma and prevent tearing during contraction
also helps in conduction of ca++ ion
